Mutagenetix > Incidental Mutation

Incidental Mutation 'R5617:Ranbp6'

439614

Institutional Source

Beutler Lab

Gene Symbol

Ranbp6

Ensembl Gene

ENSMUSG00000074909

Gene Name

RAN binding protein 6

Synonyms

MMRRC Submission

043276-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.295) question?

Stock #

R5617 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29785800-29790374 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29789863 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 163 (F163S)

Ref Sequence

ENSEMBL: ENSMUSP00000100503 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099525]

AlphaFold

Q8BIV3

Predicted Effect

probably damaging
Transcript: ENSMUST00000099525
AA Change: F163S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000100503
Gene: ENSMUSG00000074909
AA Change: F163S

Domain	Start	End	E-Value	Type
low complexity region	70	78	N/A	INTRINSIC
Pfam:HEAT_2	367	475	2.4e-12	PFAM
Pfam:HEAT_EZ	380	434	1.1e-9	PFAM
Pfam:HEAT	409	438	8.3e-7	PFAM
Pfam:HEAT	916	944	1.1e-6	PFAM

Meta Mutation Damage Score

0.8824

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,227,891 (GRCm39)	L645F	probably benign	Het
Acss3	T	C	10: 106,787,851 (GRCm39)	Y522C	probably damaging	Het
Asb18	A	G	1: 89,882,184 (GRCm39)	V118A	possibly damaging	Het
Aste1	T	A	9: 105,275,034 (GRCm39)	C8S	probably benign	Het
Atp10a	A	G	7: 58,453,423 (GRCm39)	S834G	probably benign	Het
Cdh18	A	G	15: 23,226,854 (GRCm39)	D105G	probably damaging	Het
Cenpb	T	C	2: 131,020,934 (GRCm39)	E288G	probably damaging	Het
Clcnka	C	T	4: 141,116,628 (GRCm39)	G541D	probably null	Het
Dctn3	T	C	4: 41,716,407 (GRCm39)	I134V	possibly damaging	Het
Dennd4b	T	C	3: 90,182,933 (GRCm39)	S917P	probably benign	Het
Fam135b	A	T	15: 71,493,865 (GRCm39)	D21E	probably damaging	Het
Fam174a	T	C	1: 95,241,972 (GRCm39)	V144A	probably damaging	Het
Fbxo38	A	G	18: 62,639,042 (GRCm39)	Y1087H	probably damaging	Het
Gm7275	A	T	16: 47,894,527 (GRCm39)		noncoding transcript	Het
Gm9271	G	T	7: 39,013,076 (GRCm39)		noncoding transcript	Het
Grm2	T	C	9: 106,528,275 (GRCm39)		probably null	Het
Htt	T	A	5: 35,028,150 (GRCm39)	V1802D	possibly damaging	Het
Ighv1-75	C	A	12: 115,797,874 (GRCm39)	G16V	probably benign	Het
Krt78	G	A	15: 101,856,044 (GRCm39)	T589I	probably damaging	Het
Lama3	T	C	18: 12,631,993 (GRCm39)		probably benign	Het
Lbr	A	T	1: 181,656,467 (GRCm39)	V227D	probably benign	Het
Lsamp	T	C	16: 41,954,786 (GRCm39)	V211A	probably damaging	Het
Map3k19	G	A	1: 127,750,703 (GRCm39)	R883C	probably damaging	Het
Marchf8	A	C	6: 116,380,481 (GRCm39)	I111L	possibly damaging	Het
Mrps10	T	A	17: 47,689,167 (GRCm39)	M187K	probably benign	Het
Ncdn	G	A	4: 126,638,840 (GRCm39)	R660C	probably damaging	Het
Notum	A	T	11: 120,547,171 (GRCm39)	Y332*	probably null	Het
Nr1h5	A	T	3: 102,855,145 (GRCm39)	L319I	probably damaging	Het
Or51q1	A	T	7: 103,628,921 (GRCm39)	H180L	possibly damaging	Het
Or8k35	T	A	2: 86,424,345 (GRCm39)	I276L	probably benign	Het
Osbpl5	T	C	7: 143,246,684 (GRCm39)	D765G	possibly damaging	Het
Parp3	C	T	9: 106,351,704 (GRCm39)	V170M	possibly damaging	Het
Pcdh15	A	G	10: 74,471,504 (GRCm39)		probably benign	Het
Pcdha9	T	G	18: 37,131,869 (GRCm39)	S313A	probably benign	Het
Pfkm	A	G	15: 98,020,107 (GRCm39)	R201G	possibly damaging	Het
Pgm5	G	A	19: 24,727,765 (GRCm39)	R375*	probably null	Het
Phactr2	A	G	10: 13,349,809 (GRCm39)	S72P	possibly damaging	Het
Plaat1	A	T	16: 29,039,162 (GRCm39)	R81*	probably null	Het
Plec	A	G	15: 76,058,732 (GRCm39)	L3600P	probably damaging	Het
Pou6f1	G	A	15: 100,483,874 (GRCm39)	T208M	possibly damaging	Het
Rabep1	C	T	11: 70,808,355 (GRCm39)	S394L	probably damaging	Het
Ranbp2	T	G	10: 58,301,489 (GRCm39)	F687C	probably damaging	Het
Rcor3	T	C	1: 191,804,430 (GRCm39)	N240D	probably benign	Het
Samd13	C	A	3: 146,352,065 (GRCm39)	K95N	probably benign	Het
Slc25a17	G	T	15: 81,244,975 (GRCm39)		probably benign	Het
Slfn8	G	T	11: 82,895,547 (GRCm39)	H420N	probably benign	Het
Sptbn5	G	A	2: 119,876,965 (GRCm39)		probably benign	Het
Stim2	G	A	5: 54,267,075 (GRCm39)	E21K	probably damaging	Het
Tmem163	A	G	1: 127,479,067 (GRCm39)	Y151H	possibly damaging	Het
Trio	A	G	15: 27,902,834 (GRCm39)	I209T	probably benign	Het
Tubal3	T	A	13: 3,983,432 (GRCm39)	L404H	probably damaging	Het
Ubqln3	A	G	7: 103,791,640 (GRCm39)	F150S	probably damaging	Het
Ubr5	T	C	15: 38,030,901 (GRCm39)	S425G	possibly damaging	Het
Vmn2r52	T	A	7: 9,904,861 (GRCm39)	H326L	probably damaging	Het

Other mutations in Ranbp6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02020:Ranbp6	APN	19	29,787,176 (GRCm39)	missense	probably benign	0.00
IGL02665:Ranbp6	APN	19	29,790,301 (GRCm39)	missense	possibly damaging	0.64
IGL02943:Ranbp6	APN	19	29,789,524 (GRCm39)	missense	possibly damaging	0.91
IGL03018:Ranbp6	APN	19	29,788,789 (GRCm39)	missense	probably damaging	1.00
IGL03219:Ranbp6	APN	19	29,787,680 (GRCm39)	missense	probably damaging	1.00
R0137:Ranbp6	UTSW	19	29,787,097 (GRCm39)	missense	probably benign	0.16
R0412:Ranbp6	UTSW	19	29,789,483 (GRCm39)	missense	possibly damaging	0.91
R1171:Ranbp6	UTSW	19	29,789,679 (GRCm39)	missense	probably benign	0.37
R1521:Ranbp6	UTSW	19	29,788,846 (GRCm39)	missense	probably benign
R1967:Ranbp6	UTSW	19	29,789,900 (GRCm39)	nonsense	probably null
R2257:Ranbp6	UTSW	19	29,788,949 (GRCm39)	missense	possibly damaging	0.47
R4490:Ranbp6	UTSW	19	29,787,733 (GRCm39)	missense	probably damaging	1.00
R4624:Ranbp6	UTSW	19	29,788,263 (GRCm39)	nonsense	probably null
R4625:Ranbp6	UTSW	19	29,788,263 (GRCm39)	nonsense	probably null
R4626:Ranbp6	UTSW	19	29,788,263 (GRCm39)	nonsense	probably null
R4649:Ranbp6	UTSW	19	29,787,721 (GRCm39)	missense	probably benign	0.23
R4709:Ranbp6	UTSW	19	29,788,984 (GRCm39)	missense	probably benign	0.00
R4777:Ranbp6	UTSW	19	29,789,037 (GRCm39)	missense	probably damaging	1.00
R4895:Ranbp6	UTSW	19	29,787,175 (GRCm39)	missense	possibly damaging	0.93
R5362:Ranbp6	UTSW	19	29,789,128 (GRCm39)	missense	probably benign	0.30
R5379:Ranbp6	UTSW	19	29,789,083 (GRCm39)	missense	probably damaging	1.00
R6264:Ranbp6	UTSW	19	29,790,026 (GRCm39)	missense	probably benign	0.00
R7091:Ranbp6	UTSW	19	29,790,116 (GRCm39)	missense	probably damaging	1.00
R7234:Ranbp6	UTSW	19	29,789,462 (GRCm39)	missense	possibly damaging	0.67
R7664:Ranbp6	UTSW	19	29,789,476 (GRCm39)	missense	possibly damaging	0.90
R7904:Ranbp6	UTSW	19	29,789,813 (GRCm39)	missense	probably benign
R7915:Ranbp6	UTSW	19	29,790,073 (GRCm39)	missense	probably benign
R8023:Ranbp6	UTSW	19	29,789,222 (GRCm39)	missense	possibly damaging	0.81
R8366:Ranbp6	UTSW	19	29,789,299 (GRCm39)	missense	probably damaging	1.00
R9037:Ranbp6	UTSW	19	29,790,317 (GRCm39)	missense	probably benign
R9269:Ranbp6	UTSW	19	29,787,388 (GRCm39)	missense	probably damaging	0.99
R9461:Ranbp6	UTSW	19	29,787,163 (GRCm39)	missense	possibly damaging	0.64
X0024:Ranbp6	UTSW	19	29,789,840 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATCCCAGGAAGCAAATCCG -3'
(R):5'- ATGTCAAGATTGAACTGATACTGGC -3'

Sequencing Primer
(F):5'- TCCGCAAAGTCTTTGAAAAGAGC -3'
(R):5'- TGAACTGATACTGGCCGTTAAG -3'

Posted On

2016-11-08